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69 results

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Page 1
A novel Angiogenin gene mutation in a sporadic patient with amyotrophic lateral sclerosis from southern Italy.
Conforti FL, Sprovieri T, Mazzei R, Ungaro C, La Bella V, Tessitore A, Patitucci A, Magariello A, Gabriele AL, Tedeschi G, Simone IL, Majorana G, Valentino P, Condino F, Bono F, Monsurrò MR, Muglia M, Quattrone A. Conforti FL, et al. Among authors: ungaro c. Neuromuscul Disord. 2008 Jan;18(1):68-70. doi: 10.1016/j.nmd.2007.07.003. Epub 2007 Aug 20. Neuromuscul Disord. 2008. PMID: 17703939
Comparison of different techniques for detecting 17p12 duplication in CMT1A.
Patitucci A, Muglia M, Magariello A, Gabriele AL, Peluso G, Sprovieri T, Conforti FL, Mazzei R, Ungaro C, Condino F, Valentino P, Bono F, Rodolico C, Mazzeo A, Toscano A, Vita G, Quattrone A. Patitucci A, et al. Among authors: ungaro c. Neuromuscul Disord. 2005 Jul;15(7):488-92. doi: 10.1016/j.nmd.2005.04.006. Neuromuscul Disord. 2005. PMID: 15941660
Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia.
Magariello A, Muglia M, Patitucci A, Mazzei R, Conforti FL, Gabriele AL, Sprovieri T, Ungaro C, Gambardella A, Mancuso M, Siciliano G, Branca D, Aguglia U, de Angelis MV, Longo K, Quattrone A. Magariello A, et al. Among authors: ungaro c. Neuromuscul Disord. 2006 Jun;16(6):387-90. doi: 10.1016/j.nmd.2006.03.009. Epub 2006 May 8. Neuromuscul Disord. 2006. PMID: 16684598
Sporadic ALS is not associated with VAPB gene mutations in Southern Italy.
Conforti FL, Sprovieri T, Mazzei R, Ungaro C, Tessitore A, Tedeschi G, Patitucci A, Magariello A, Gabriele A, Labella V, Simone IL, Majorana G, Monsurrò MR, Valentino P, Muglia M, Quattrone A. Conforti FL, et al. Among authors: ungaro c. J Negat Results Biomed. 2006 May 29;5:7. doi: 10.1186/1477-5751-5-7. J Negat Results Biomed. 2006. PMID: 16729899 Free PMC article.
Further evidence that D90A-SOD1 mutation is recessively inherited in ALS patients in Italy.
Luisa Conforti F, Sprovieri T, Mazzei R, Patitucci A, Ungaro C, Zoccolella S, Magariello A, Bella VL, Tessitore A, Tedeschi G, Simone IL, Majorana G, Valentino P, Citrigno L, Gabriele A, Bono F, Monsurrò MR, Muglia M, Quattrone A. Luisa Conforti F, et al. Among authors: ungaro c. Amyotroph Lateral Scler. 2009 Feb;10(1):58-60. doi: 10.1080/17482960802163853. Amyotroph Lateral Scler. 2009. PMID: 18608106
FUS mutations in sporadic amyotrophic lateral sclerosis: clinical and genetic analysis.
Sproviero W, La Bella V, Mazzei R, Valentino P, Rodolico C, Simone IL, Logroscino G, Ungaro C, Magariello A, Patitucci A, Tedeschi G, Spataro R, Condino F, Bono F, Citrigno L, Monsurrò MR, Muglia M, Gambardella A, Quattrone A, Conforti FL. Sproviero W, et al. Among authors: ungaro c. Neurobiol Aging. 2012 Apr;33(4):837.e1-5. doi: 10.1016/j.neurobiolaging.2011.10.005. Epub 2011 Nov 4. Neurobiol Aging. 2012. PMID: 22055719 Free article.
Gene symbol: MECP2. Disease: Rett syndrome.
Conforti FL, Mazzei R, Patitucci A, Magariello A, Sprovieri T, Ungaro C, Gabriele AL, Muglia M, Del Giudice E, Quattrone A. Conforti FL, et al. Among authors: ungaro c. Hum Genet. 2006 Jul;119(6):675. Hum Genet. 2006. PMID: 17128467 No abstract available.
Gene symbol: MECP2. Disease: Rett syndrome.
Conforti FL, Mazzei R, Sprovieri T, Ungaro C, Patitucci A, Magariello A, Gabriele AL, Bravaccio C, Muglia M, Quattrone A. Conforti FL, et al. Among authors: ungaro c. Hum Genet. 2006 Jul;119(6):676. Hum Genet. 2006. PMID: 17128468 No abstract available.
Gene symbol: NOTCH3.
Mazzei R, Conforti FL, Ungaro C, Liguori M, Sprovieri T, Patitucci A, Magariello A, Gabriele AL, Muglia M, Quattrone A. Mazzei R, et al. Among authors: ungaro c. Hum Genet. 2007 Apr;121(2):295. Hum Genet. 2007. PMID: 17598216 No abstract available.
Gene symbol: NOTCH3.
Mazzei R, Conforti FL, Ungaro C, Liguori M, Magariello A, Gabriele AL, Patitucci A, Sprovieri T, Muglia M, Quattrone A. Mazzei R, et al. Among authors: ungaro c. Hum Genet. 2007 Apr;121(2):296. Hum Genet. 2007. PMID: 17598243 No abstract available.
69 results